Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Liu J, Prager-van der Smissen WJ, Collée JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann M, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Brauch H, Brenner H, Briceno I, Brucker SY, Brüning T, Burwinkel B, Cai Q, Cai H, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Choi JY, Christiaens M, Clarke CL, Couch FJ, Czene K, Daly MB, Devilee P, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Fasching P, Figueroa J, Flyger H, Fritschi L, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haiman CA, Håkansson N, Hall P, Harrington PA, Hart SN, Hartman M, Hillemanns P, Hopper JL, Hou MF, Hunter DJ, Huo D, Ito H, Iwasaki M, Jakimovska M, Jakubowska A, John EM, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kraft P, Kristensen VN, Kurian AW, Le Marchand L, Li J, Lindblom A, Lophatananon A, Luben RN, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mariapun S, Matsuo K, Maurer T, Mavroudis D, Meindl A, Menon U, Milne RL, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Offit K, Olopade OI, Olson JE, Olsson H, Orr N, Park SK, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Romero A, Rübner M, Saloustros E, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Shen CY, Shu XO, Simard J, Sohn C, Southey MC, Spinelli JJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Torres D, Truong T, Untch M, Vachon CM, van Asperen CJ, Wolk A, Yamaji T, Zheng W, Ziogas A, Ziv E, Torres-Mejía G, Dörk T, Swerdlow AJ, Hamann U, Schmidt MK, Dunning AM, Pharoah PD, Easton DF, Hooning MJ, Martens JW, Hollestelle A (2020)

Publication Type: Journal article

Publication year: 2020

Journal

Book Volume: 10

Pages Range: 9688-

Journal Issue: 1

DOI: 10.1038/s41598-020-65665-y

Abstract

In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.

Authors with CRIS profile

Involved external institutions

University of Cambridge United Kingdom (GB) Lund University / Lunds universitet Sweden (SE) Erasmus University Medical Center (MC) Netherlands (NL) N.N. Alexandrov National Cancer Centre of Belarus for Oncology and Medical Radiology Belarus (BY) Roswell Park Cancer Institute United States (USA) (US) University of California Irvine United States (USA) (US) Mount Sinai Hospital (MSH) Canada (CA) National Cancer Institute (NCI) United States (USA) (US) Helsinki University Central Hospital (HUCH) / Helsingin seudun yliopistollinen keskussairaala (HYKS) Finland (FI) Universitätsklinikum Schleswig-Holstein (UKSH) Germany (DE) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Queen's University Canada (CA) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Herlev Hospital Denmark (DK) Pontifical Xavierian University / Pontificia Universidad Javeriana Colombia (CO) Eberhard Karls Universität Tübingen Germany (DE) Ruhr-Universität Bochum (RUB) Germany (DE) Kuopio University Hospital / Pohjois-Savon sairaanhoitopiiri Finland (FI) Westfälische Wilhelms-Universität (WWU) Münster Germany (DE) City of Hope Medical Center United States (USA) (US) Russian Academy of Sciences / Росси́йская акаде́мия нау́к (RAS) Russian Federation (RU) Vanderbilt University Medical Center United States (USA) (US) Dr. Margarete Fischer-Bosch-Institut für Klinische Pharmakologie Germany (DE) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Fox Chase Cancer Center United States (USA) (US) Karolinska Institute Sweden (SE) University of Sydney (USYD) Australia (AU) Seoul National University (SNU) / 서울대학교 Korea, Republic of (KR) Mayo Clinic United States (USA) (US) Leiden University Medical Center Netherlands (NL) Curtin University Australia (AU) University of Westminster United Kingdom (GB) McGill University Canada (CA) Cancer Council Victoria Australia (AU) Complejo Hospitalario Universitario de Santiago de Compostela Spain (ES) Research Center in Epidemiology and Population Health / Centre de recherche en Epidémiologie et Santé des Populations (CESP) France (FR) Huntsman Cancer Institute United States (USA) (US) Brigham and Women's Hospital (BWH) United States (USA) (US) University of Southampton United Kingdom (GB) London School of Hygiene and Tropical Medicine United Kingdom (GB) Hospital Clínico San Carlos Spain (ES) American Cancer Society United States (USA) (US) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) National University Health System (NUHS) Singapore (SG) Keck School of Medicine of USC United States (USA) (US) Daerim St. Mary`s Hospital Korea, Republic of (KR) Stanford Cancer Institute United States (USA) (US) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) Harvard T.H. Chan School of Public Health United States (USA) (US) Genome Institute of Singapore Singapore (SG) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Melbourne School of Population and Global Health Australia (AU) Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov" (RCGEB) Republic of North Macedonia (MK) Aichi Cancer Center Research Institute Japan (JP) University of Manchester United Kingdom (GB) Memorial Sloan Kettering Cancer Center United States (USA) (US) University College London (UCL) United Kingdom (GB) Breast Cancer Now Toby Robins Research Centre United Kingdom (GB) Fondazione IRCCS: Istituto Nazionale dei Tumori Italy (IT) University of Eastern Finland Finland (FI) Ludwig-Maximilians-Universität (LMU) Germany (DE) University of Toronto Canada (CA) Universitätsklinikum Köln Germany (DE) Centre hospitalier universitaire de Québec Canada (CA) Columbia University Irving Medical Center (CUIMC) United States (USA) (US) General University Hospital of Larissa Greece (GR) Ruprecht-Karls-Universität Heidelberg Germany (DE) Hospital Universitario Puerta de Hierro - Majadahonda Spain (ES) Universitätsklinikum Ulm Germany (DE) Cancer Research Initiatives Foundation (CARIF) / Cancer Research Malaysia (CRM) Malaysia (MY) Academia Sinica / 中央研究院 Taiwan (TW) Technion - Israel Institute of Technology Israel (IL) Population Oncology Canada (CA) Instituto Nacional de Salud Pública (INSP) / National Institute of Public Health Mexico (MX) UCSF Helen Diller Family Comprehensive Cancer Center United States (USA) (US) Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital (NKI / NKI-AVL) Netherlands (NL) University of Hawaiʻi at Mānoa United States (USA) (US) Instituto de Investigación Sanitaria Galicia Sur Spain (ES) The Institute of Cancer Research (ICR) United Kingdom (GB) Kaohsiung Municipal Hsiao-Kang Hospital (KMHK) Taiwan (TW) IFOM - FIRC Institute of Molecular Oncology Italy (IT) University of Chicago United States (USA) (US) HELIOS Kliniken Germany (DE) University General Hospital of Heraklion Greece (GR)

How to cite

APA:

Liu, J., Prager-van der Smissen, W.J., Collée, J.M., Bolla, M.K., Wang, Q., Michailidou, K.,... Hollestelle, A. (2020). Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports, 10(1), 9688-. https://doi.org/10.1038/s41598-020-65665-y

MLA:

Liu, Jingjing, et al. "Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk." Scientific Reports 10.1 (2020): 9688-.

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